Microphthalmia, Lenz Syndrome

Lenz Microphthalmia Syndrome (LMS) can be highly variable in its phenotypic presentation between families and even between members of the same family. The eyes are usually asymmetrically affected with ocular anomalies, such as microphthalmia/anophthalmia, coloboma and cataract. Mild-moderate mental retardation and urogenital anomalies (hypospadias, cryptorchidism, renal aplasia/hypoplasia, hydroureter) are the most common associated findings. Hearing loss has also been reported.

Tests Available

Forms and Documents

Test Details

BCOR
  • Confirmation of a clinical diagnosis
  • Mutation-specific testing of family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

370
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.4 Coloboma and other anomalies of anterior segment
  • 743 Congenital anomalies of eye
  • 743.1 Microphthalmos, Dysplasia of eye, Hypoplasia of eye, Rudimentary eye
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
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References

  1. Ng et al (2004) Nat Genet 36;4:411-416.
  2. Martinez-Garay et al (2007) Eur J Hum Genet 15:29-34.
  3. Horn et al (2005) Eur J Hum Genet 13: 563-569.
  4. Hilton et al (2009) Eur J Hum Genet 1-11.